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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-21801157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21801157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21801157,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020297.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "NM_020297.4",
"protein_id": "NP_064693.2",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261200.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020297.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000261200.9",
"protein_id": "ENSP00000261200.4",
"transcript_support_level": 5,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261200.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "NM_001377273.1",
"protein_id": "NP_001364202.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377273.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000879186.1",
"protein_id": "ENSP00000549245.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879186.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000879187.1",
"protein_id": "ENSP00000549246.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879187.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000879188.1",
"protein_id": "ENSP00000549247.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879188.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000879190.1",
"protein_id": "ENSP00000549249.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879190.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000879191.1",
"protein_id": "ENSP00000549250.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879191.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "ENST00000944975.1",
"protein_id": "ENSP00000615034.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944975.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4534G>A",
"hgvs_p": "p.Ala1512Thr",
"transcript": "ENST00000944976.1",
"protein_id": "ENSP00000615035.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4534,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944976.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4498G>A",
"hgvs_p": "p.Ala1500Thr",
"transcript": "ENST00000879185.1",
"protein_id": "ENSP00000549244.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4498,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879185.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4498G>A",
"hgvs_p": "p.Ala1500Thr",
"transcript": "ENST00000879189.1",
"protein_id": "ENSP00000549248.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4498,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879189.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4498G>A",
"hgvs_p": "p.Ala1500Thr",
"transcript": "ENST00000879192.1",
"protein_id": "ENSP00000549251.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4498,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879192.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4495G>A",
"hgvs_p": "p.Ala1499Thr",
"transcript": "ENST00000944977.1",
"protein_id": "ENSP00000615036.1",
"transcript_support_level": null,
"aa_start": 1499,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4495,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944977.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4486G>A",
"hgvs_p": "p.Ala1496Thr",
"transcript": "ENST00000684084.1",
"protein_id": "ENSP00000507859.1",
"transcript_support_level": null,
"aa_start": 1496,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4486,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684084.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4447G>A",
"hgvs_p": "p.Ala1483Thr",
"transcript": "ENST00000879193.1",
"protein_id": "ENSP00000549252.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1519,
"cds_start": 4447,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879193.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4396G>A",
"hgvs_p": "p.Ala1466Thr",
"transcript": "ENST00000944978.1",
"protein_id": "ENSP00000615037.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1502,
"cds_start": 4396,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944978.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.3670G>A",
"hgvs_p": "p.Ala1224Thr",
"transcript": "NM_001377274.1",
"protein_id": "NP_001364203.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3670,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377274.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "XM_005253288.5",
"protein_id": "XP_005253345.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253288.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr",
"transcript": "XM_011520545.4",
"protein_id": "XP_011518847.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520545.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4498G>A",
"hgvs_p": "p.Ala1500Thr",
"transcript": "XM_005253289.5",
"protein_id": "XP_005253346.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4498,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253289.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4396G>A",
"hgvs_p": "p.Ala1466Thr",
"transcript": "XM_005253290.5",
"protein_id": "XP_005253347.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1502,
"cds_start": 4396,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.9503415822982788,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
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"revel_score": 0.605,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4197,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.578,
"phylop100way_prediction": "Pathogenic",
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_020297.4",
"gene_symbol": "ABCC9",
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"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.4537G>A",
"hgvs_p": "p.Ala1513Thr"
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{
"score": 7,
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"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007063241.1",
"gene_symbol": "KCNJ8-AS1",
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"effects": [
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],
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}
],
"clinvar_disease": "Dilated cardiomyopathy 1O",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dilated cardiomyopathy 1O",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}